摘要
目的应用染色体微阵列分析联合核型分析对颈项透明层(NT)增厚胎儿进行产前诊断,了解病因。方法选取2015年2月至2016年12月孕11~13+6周在杭州市妇产科医院产前诊断中心检测胎儿颈项透明层增厚患者(NT≥2.5mm)51例,行绒毛穿刺/羊水穿刺获取胎儿标本进行染色体核型及单核苷酸多态性微阵列(SNP)检测,联合临床资料分析结果。结果 51例标本中染色体核型异常11例,阳性率21.57%,SNP异常20例,阳性率39.22%。SNP异常而核型检测正常10例,其中致病性拷贝数变异(CNV)3例,临床意义不明的CNV 5例,可能良性CNV 2例。高龄孕妇与非高龄孕妇SNP结果差异无统计学意义(χ~2=0.84,P>0.05)。颈项透明层增厚合并超声其他异常、终止妊娠胎儿的SNP异常率均升高,差异有统计学意义(χ~2值分别为9.28,24.32,均P<0.05)。结论对NT异常胎儿的产前诊断采用染色体核型+染色体微阵列检测模式,能覆盖染色体微缺失微重复,对产前诊断具有重要意义。
Objective To understand the genetic etiology for fetuses with increased nuchal translucency （NT） by chromosome mieroarray analysis （CMA） combined with karyotype analysis. Methods A total of 51 women with gestational 11- 13^＋6 weeks whose fetuses were detected with increased thickness of NT （NT≥ 2.5mm） in the Prenatal Diagnosis Center of Hangzhou Women＇s Hospital during February 2015 to December 2016 were selected. Villous puncture / amniotic fluid puncture were performed to obtain fetal specimens for karyotype analysis and single nucleotide polymorphism microarray （SNP） detection. The results were analyzed combined with the clinical data. Results Among 51 cases, there were 11 cases with abnormal chromosome karyotypes, and the positive rate was 21.57%. Meanwhile, there were 20 eases with abnormal SNP, and the positive rate was 39.22%0. In the 10 cases with abnormal SNP and normal chromosome karyotypes, there were 3 cases of pathogenic copy number variations （CNV）, 5 cases of CNV with unknown clinical significance, and 2 cases of possibly benign CNV. There was no significant difference in SNP results between pregnant women in advanced maternal age and those in normal maternal age （χ^2 = 0.84, P〉0.05）. In the fetus who showed abnormalities in NT and uhrasonography and the fetus aborted, the abnormal rate of SNP was higher with statistically significant difference （χ^2 value was 9.28 and 24.32, respectively, both P 〈0.05）. Conclusion Chromosome karyotype combined with chromosome microarray detection in prenatal diagnosis of fetuses with abnormal NT could identify chromosomal microdeletion / micro-duplication, which is of great significance to prenatal diagnosis.
作者
王敏
王昊
毛爱芬
张艳珍
WANG Min;WANG Hao;MAO Ai-fen;ZHANG Yan-zhen(Prenatal Diagnosis Center, Hangzhou Women＇s Hospital, Zhejiang Hangzhou 310008, China)
出处
《中国妇幼健康研究》
2018年第4期465-468,共4页
Chinese Journal of Woman and Child Health Research
基金
杭州市社会发展自主申报项目(20160533B38)
关键词
胎儿颈项透明层
核型分析
染色体微阵列分析
拷贝数变异
产前诊断
nuchal translucency （NT）
karyotype analysis
chromosome microarray analysis （CMA）
copy number variation （CNV）
prenatal diagnosis
